1. Gene
  2. RIC3 - RIC3 acetylcholine receptor chaperone Gene

RIC3 - RIC3 acetylcholine receptor chaperone Gene

中文名称:RIC3 乙酰胆碱受体伴侣

种属: Homo sapiens

同用名: RIC-3; AYST720; PRO1385

基因 ID: 79608 | 基因类型: protein coding

关于 RIC3

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:8,092,965-8,169,025 (from NCBI)

This gene has 13 transcripts (splice variants) and 259 orthologues. Ubiquitous expression in brain (RPKM 6.2), prostate (RPKM 4.2) and 23 other tissues.

功能概要

该基因编码对胆碱酯酶 3 样家族抑制剂具有抗性的成员,该家族充当特定 5-羟色胺 3 型受体和烟碱型乙酰胆碱受体亚型的伴侣。编码的蛋白质影响这些受体亚基在内质网中的折叠和组装以及细胞表面的表达。该蛋白质包含一个 N 末端跨膜结构域、一个富含脯氨酸的间隔区和一个胞质 C 末端卷曲螺旋结构域。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 10 月]

This gene encodes a member of the resistance to inhibitors of cholinesterase 3-like family which functions as a chaperone of specific 5-hydroxytryptamine type 3 receptor and nicotinic acetylcholine receptor subtypes. The encoded protein influences the folding and assembly of these receptor subunits in the endoplasmic reticulum and expression on the cell surface. This protein contains an N-terminal transmembrane domain, a proline-rich spacer, and a cytosolic C-terminal coiled-coil domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

RIC3 基因产物(9)

mRNA Protein Name
NM_001135109.4 NP_001128581.1 protein RIC-3 isoform f precursor
NM_001206671.4 NP_001193600.1 protein RIC-3 isoform a precursor
NM_001206672.4 NP_001193601.1 protein RIC-3 isoform e precursor
NM_001346690.2 NP_001333619.1 protein RIC-3 isoform h
NM_001346691.2 NP_001333620.1 protein RIC-3 isoform i precursor
NM_001346692.2 NP_001333621.1 protein RIC-3 isoform j
NM_001346693.2 NP_001333622.1 protein RIC-3 isoform k
NM_001346694.2 NP_001333623.1 protein RIC-3 isoform g
NM_024557.6 NP_078833.3 protein RIC-3 isoform c precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of protein localization to cell surface IDA
IDA: 通过直接分析推断
32204458 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

RIC3 蛋白结构

RIC3

RIC3: Resistance to inhibitors of cholinesterase homologue 3 (15 - 165)

  • 0
  • 100
  • 200
  • 300
  • 369 a.a.
蛋白主名 其他名称

protein RIC-3

resistance to inhibitors of cholinesterase 3

关联疾病

疾病名称 别名
Retinal Dystrophy And Obesity

RDOB

Dystrophy, Retinal, And Obesity

Tremor, Hereditary Essential, 3

ETM3

Essential Tremor 3

Essential Tremor, Hereditary, 3

Hereditary Essential Tremor 3

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus RIC3 MGD MGI:2443887
Canis familiaris RIC3 VGNC VGNC:45571
Felis catus RIC3 VGNC VGNC:104324
Rattus norvegicus RIC3 RGD RGD:1588939
Bos taurus RIC3 VGNC VGNC:33960
Macaca mulatta RIC3 VGNC VGNC:76872